{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T21:52:52Z","timestamp":1771019572886,"version":"3.50.1"},"reference-count":48,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T00:00:00Z","timestamp":1761782400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004881","name":"Instituto Mexicano del Seguro Social","doi-asserted-by":"publisher","award":["FIS\/IMSS\/PROT\/G18\/1817"],"award-info":[{"award-number":["FIS\/IMSS\/PROT\/G18\/1817"]}],"id":[{"id":"10.13039\/501100004881","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013704","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda, Paraguay","doi-asserted-by":"publisher","award":["826522"],"award-info":[{"award-number":["826522"]}],"id":[{"id":"10.13039\/501100013704","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The 22q11.2 deletion syndrome (22q11.2DS) is mostly caused by deletions of 3 and 1.5\u2009Mb, referred to as typical deletions, although atypical deletions have also been reported. The commonest features are congenital heart disease, immunodeficiency, facial dysmorphism, and developmental delay. However, phenotypic variability is remarkable, and the underlying mechanisms remain poorly understood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To determine copy number variations (CNVs) in the 22q11.2 region and their association with clinical manifestations in Mexican patients with suspected 22q11.2DS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Fluorescence in\u00a0situ Hybridization (FISH) and Multiplex Ligation\u2010dependent Probe Amplification (MLPA) assays were performed in 80 patients with suspected 22q11.2DS. Clinical characterization was carried out according to the criteria used by the 22q11.2 Consortium.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      FISH detected deletions in 51%, while MLPA detected CNVs in 54%. Typical deletions were observed in 86% of patients, whereas atypical deletions were found in 14%, including CNVs involving single genes (\n                      <jats:italic>TBX1, TOP3B<\/jats:italic>\n                      , and\n                      <jats:italic>PRODH<\/jats:italic>\n                      ). Three families were identified with the 3\u2009Mb deletion and exhibited a heterogeneous phenotype that cannot be explained by the microdeletion alone.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>22q11.2DS is a complex disorder for which MLPA is recommended to detect atypical deletions in FISH\u2010negative patients, and to define deletion size, breakpoints, and genes in FISH\u2010positive ones.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70153","type":"journal-article","created":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T13:36:53Z","timestamp":1761831413000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In\u00a0Situ Hybridization and Multiplex Ligation\u2010Dependent Probe Amplification"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2645-4161","authenticated-orcid":false,"given":"Thania Alejandra","family":"Aguayo\u2010Orozco","sequence":"first","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social  Guadalajara Jalisco M\u00e9xico"},{"name":"Doctorado\u00a0en\u00a0Gen\u00e9tica Humana Centro Universitario de Ciencias de la Salud \u2010 Universidad de Guadalajara  Guadalajara Jalisco M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Horacio","family":"Rivera","sequence":"additional","affiliation":[{"name":"Doctorado\u00a0en\u00a0Gen\u00e9tica Humana Centro Universitario de Ciencias de la Salud \u2010 Universidad de Guadalajara  Guadalajara Jalisco M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6096-4579","authenticated-orcid":false,"given":"Luis E.","family":"Figuera","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social  Guadalajara Jalisco M\u00e9xico"},{"name":"Doctorado\u00a0en\u00a0Gen\u00e9tica Humana Centro Universitario de Ciencias de la Salud \u2010 Universidad de Guadalajara  Guadalajara Jalisco M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Esparza\u2010Garc\u00eda","sequence":"additional","affiliation":[{"name":"Unidad M\u00e9dica de Alta Especialidad, Hospital de Pediatr\u00eda \u2010 Centro M\u00e9dico Nacional de Occidente Instituto Mexicano del Seguro Social  Guadalajara Jalisco M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco Javier","family":"Perea\u2010D\u00edaz","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social  Guadalajara Jalisco M\u00e9xico"},{"name":"Doctorado\u00a0en\u00a0Gen\u00e9tica Humana Centro Universitario de Ciencias de la Salud \u2010 Universidad de Guadalajara  Guadalajara Jalisco M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Rebeca","family":"Jaloma\u2010Cruz","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social  Guadalajara Jalisco M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes del Carmen","family":"Rizo\u2010de la Torre","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Medicina Molecular Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social  Guadalajara Jalisco M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma. 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